Congenital heart defect-round face-developmental delay syndrome
Synonyms: Sonoda syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital heart defect-round face-developmental delay syndrome | Sonoda syndrome |
| fr | Syndrome de cardiopathie congénitale-face ronde-petite taille | Syndrome de Sonoda |
| de | Kongenitaler Herzfehler-rundes Gesicht-Entwicklungsverzögerung-Syndrom | Sonoda-Syndrom |
| es | Síndrome congénito de cardiopatía-cara redonda-retraso del desarrollo | Síndrome de Sonoda |
| it | Cardiopatia - faccia rotonda - ritardo congenito dello sviluppo | |
| nl | Congenitaal hartdefect - rond aangezicht - ontwikkelingsachterstand-syndroom | Syndroom van Sonoda |
| pt | Síndrome de cardiopatia-face redonda-perturbação do desenvolvimento congénita | Síndrome Sonoda |
| pl | Wada serca - okrągła twarz - opóźnienie rozwoju | Zespół Sonoda |
| cs | Syndrom zahrnující vrozenou srdeční vadu, kulatý obličej a opoždění vývoje | Sonodův syndrom |
| uk | Синдром вродженої вади серця - круглого обличчя - затримки розвитку | Синдром Сонода |
| zh | 先天性心脏缺陷-圆脸-发育迟缓综合征 | Sonoda综合征 |
| tr | Doğumsal kalp defekti yuvarlak yüz-gelişme geriliği sendromu | Sonoda sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270460 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010039 | E | validated | |
| MeSH | C536680 | E | validated | |
| UMLS | C0796162 | E | validated | |
| GARD | 4905 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3225826[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3225826[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000163 | Abnormal oral cavity morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0000160 | Narrow mouth | |
| HP:0000311 | Round face | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000047 | Hypospadias | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1355
- This record as JSON: /data/d/1355.json